Why the study?
CASQ2-K180R causes CPVT2 via an unknown mechanism that differs from CASQ2 variants associated with autosomal recessive CPVT2.
The CASQ2-K180R variant causes autosomal dominant CPVT2 through a novel mechanism involving impaired dynamic sarcoplasmic reticulum calcium buffering.
Supports novel CPVT2 mechanism in animal models; leaves open human translation and therapeutic targeting.
CASQ2-K180R causes CPVT2 via a heretofore unknown mechanism that differs from CASQ2 variants associated with autosomal recessive CPVT2. Unlike autosomal recessive CASQ2 variants, K180R impairs the dynamic buffering of Ca within the SR without affecting total SR Ca content or Casq2 protein levels. Our data provide insight into the molecular mechanism underlying autosomal dominant CPVT2.
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Wleklinski et al. (2022) studied this question.
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